Premium
Ambiguous genitalia, microcephaly, seizures, bone malformations, and early death: A distinct MCA/MR syndrome
Author(s) -
Mégarbané André,
Chouery Eliane,
MigRavix Cécile,
El Sabbagh Sandra,
Corbani Sandra,
Ghoch Joelle Abou,
Jalkh Nadine,
Mehawej Cybel,
Lévy Nicolas,
Villard Laurent
Publication year - 2011
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.33938
Subject(s) - microcephaly , hypotonia , ptosis , comparative genomic hybridization , biology , anatomy , genetics , chromosome , gene , pharmacology
We report on two siblings with hypotonia, ambiguous genitalia, microcephaly, ptosis, microretrognathia, thin lips, seizures, absent ossification of pubic rami, and brain abnormalities at the MRI. The two siblings died at 5 and 8 months, respectively. Molecular analysis indicated that SOX9 , ARX , and DHCR7 genes were normal. Comparative genomic hybridization (CGH)‐array analysis performed on the younger boy indicated two notable deletions, one on paternally inherited chromosome 4, and one on maternally inherited chromosome 5. The same deletions were found in a normal sister. Differential diagnoses and the possibility of a hitherto unreported syndrome are discussed. © 2011 Wiley‐Liss, Inc.